Genomic Map
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Target Gene Details
Entrez Gene ID: | 148738 |
Gene Name: | hemochromatosis type 2 (juvenile) |
Gene Aliases: |
HFE2A, HJV, JH, RGMC |
Location: |
Chr.1:146017468-146021822 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| HFE2 | NM_001316767.1 | NP_001303696.1 | ||
| NM_145277.4 | NP_660320.3 | |||
| NM_202004.3 | NP_973733.1 | |||
| NM_213652.3 | NP_998817.1 | |||
| NM_213653.3 | NP_998818.1 | |||
| XM_005272932.1 | XP_005272989.1 | |||
| AK092682.1 | BAC03944.1 | |||
| AK092692.1 | BAC03947.1 | |||
| AK096905.1 | BAC04890.1 | |||
| AK124273.1 | BAC85823.1 | |||
| AK223575.1 | ||||
| AK290831.1 | ||||
| AK292742.1 | ||||
| AK315852.1 | ||||
| BC017926.1 | AAH17926.1 | |||
| BC085604.1 | AAH85604.1 | |||
| DA893500.1 | ||||
| DB035674.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1005055 | Chr.1:145642988 - 148991068 on Build GRCh38 | Loss |
 POLR3C
POLR3GL
NBPF11
TXNIP
CHD1L
ANKRD35
PIAS3
LOC105371242
LOC100996763
ACP6
NBPF12
GNRHR2
GPR89A
PPIAL4G
HYDIN2
LOC100132057
RNF115
LOC100996517
LOC100505824
HFE2
PDZK1
GPR89B
RNVU1-7
MIR5087
GJA8
BCL9
MIR6077
RNU1-13P
RNVU1-6
LOC284561
NUDT4P1
PDIA3P1
NOTCH2NL
ITGA10
CD160
RNVU1-1
LOC728989
LOC101927468
RNVU1-8
NUDT4P2
LINC00624
LINC01138
NBPF14
CH17-408M7.1
GJA5
NUDT17
PEX11B
LIX1L
PRKAB2
MIR6736
LOC101928979
RNVU1-3
ANKRD34A
PDE4DIP
LOC105371226
FMO5
NBPF13P
NBPF10
PDZK1P1
RBM8A
|
| nsv509457 | Chr.1:145948024 - 149021821 on Build GRCh38 | Insertion |
LOC101927468
POLR3GL
RNVU1-8
NBPF11
NUDT4P2
LINC00624
TXNIP
LINC01138
NBPF14
CHD1L
CH17-408M7.1
LOC105371242
LOC100996763
GJA5
ACP6
NBPF12
LIX1L
PPIAL4G
PRKAB2
HYDIN2
LOC100132057
LOC101928979
RNVU1-3
LOC100996517
LOC100505824
ANKRD34A
PDE4DIP
HFE2
GPR89B
RNVU1-7
LOC105371226
MIR5087
GJA8
FMO5
BCL9
MIR6077
RNU1-13P
RNVU1-6
LOC284561
NBPF13P
NUDT4P1
PDIA3P1
NBPF10
NOTCH2NL
PDZK1P1
RNVU1-1
LOC728989
|
| nsv2699 | Chr.1:146018222 - 146052325 on Build GRCh38 | Insertion |
RNVU1-6
HFE2
|
| nsv831359 | Chr.1:145983609 - 146147220 on Build GRCh38 | Loss |
RNVU1-6
NBPF10
LOC101928979
TXNIP
HFE2
|
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Additional Information:
Set Membership: |
Intragenic
Non-exonic
DGV Variation
Validated
|
Gene Ontology Categories:
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